The COPA Syndrome Foundation is on a mission to discover how the COPA syndrome autoimmune disease damages the lungs, joints and other organs. Today very little is known about the disease. Our goal is to raise public awareness about this disorder and fund research and genetic testing to move forcefully toward improving treatment options and medications. We strive to offer hope, and ultimately a cure, for those suffering with the COPA syndrome, and to support their families who carry this genetic disease.
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Think you have COPA syndrome?
Here are some of the symptoms
COPA syndrome is typically diagnosed as Unknown Interstitial Lung Disease which can include hemorrhaging in the lungs.
Early symptoms of COPA syndrome include blood in urine and decreased urine output. Late symptoms include swelling due to fluid retention and shortness of breath.
Along with lung disease, COPA syndrome can manifest as rheumatoid arthritis. Signs for COPA syndrome are pain, stiffness or swelling in joints, especially upon awakening.
What is COPA Syndrome?
COPA syndrome is an inherited disorder caused by mutations in the coatomer subunit alpha gene, known as COPA. The disorder usually appears early in childhood, and is usually characterized by a combination of severe lung disease and arthritis. If someone suffers from a combination of these symptoms, they may want to consider being tested for COPA syndrome.
The childhood syndrome was only recently discovered when Houston pulmonologists shared research and connected the dots with a team of scientists at the University of California in San Francisco. Their research was published in the April 20th, 2015 online edition of Nature Genetics.
Common complaints of onset in symptoms include difficulty breathing or joint pains due to arthritis. Patients with COPA syndrome usually develop respiratory issues such as bleeding in the lungs or pulmonary hemorrhage or inflammation and scarring in the lungs know as interstitial lung disease (ILD). All patients with the COPA syndrome seem to eventually develop interstitial lung disease and arthritis over time.
- Blood tests: blood may be drawn to check for autoantibodies. Autoantibodies in patients include anti-neutrophil cytoplasmic antibodies (ANCA) such as anti-myeloperoxidase (MPO) or anti-proteinase 3 (PR3) antibodies, and anti-nuclear antibodies (ANA). Also seen less commonly are cyclic citrullinated peptide (CCP) antibodies or rheumatoid factor (RF).
- Chest imaging – either a CT scan of the chest or chest x-ray (CXR) can be used to look for lung disease and determine progression of lung disease.
- Pulmonary function tests – breathing tests that assess how well the lungs are working.
- Bronchoscopy exam – a procedure in which a thin tube with a camera is inserted into the lung to look at the lung tissue and to obtain lung tissue samples. The samples collected can include lung fluid and tissues to check for infections, the presence of bleeding and the types of immune cells.
- Genetic testing – COPA syndrome is inherited and even early studies show that it runs in families. If you are diagnosed with COPA syndrome you should check with your doctor about genetic testing. You may be referred to a genetic counselor, or your doctor may want to discuss the case with one of the medical research labs studying the disorder.
How is copa syndrome treated?
Patients are usually treated with medications that suppress the immune system known as immunosuppressive drugs, such as prednisone, rituximab or mycophenolate. It is important to note that research on the syndrome is in the early stages and therefore scientist and doctors are still learning which treatments work best but one goal of this foundation is to identify more patients so that more history and data can be compiled and shared. Talk with your doctor about available options.
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Current Board of Directors of the COPA Syndrome Foundation.
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